ClinVar

NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11111585 (on Assembly GRCh38)
• Chr19: 11222261 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter)

HGVS:

• NC_000019.10:g.11111585C>T
• NG_009060.1:g.27205C>T
• NM_000527.5:c.1132C>TMANE SELECT
• NM_001195798.2:c.1132C>T
• NM_001195799.2:c.1009C>T
• NM_001195800.2:c.628C>T
• NM_001195803.2:c.751C>T
• NP_000518.1:p.Gln378Ter
• NP_001182727.1:p.Gln378Ter
• NP_001182728.1:p.Gln337Ter
• NP_001182729.1:p.Gln210Ter
• NP_001182732.1:p.Gln251Ter
• LRG_274:g.27205C>T
• NC_000019.9:g.11222261C>T
• c.1132C>T

This HGVS expression did not pass validation

Protein change:

Q210*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000727; dbSNP: rs879254802

NCBI 1000 Genomes Browser:

rs879254802

Molecular consequence:

• NM_000527.5:c.1132C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.1132C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.1009C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195800.2:c.628C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]